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Your search for “Rare Diseases” returned 232 results

Mouse Model Yields Possible Treatment for Autism-Like Symptoms in Rare Disease

…with Jacobsen syndrome, a rare inherited disease, experience social and behavioral issues consistent with autism spectrum disorders. Researchers at University of California, San Diego School of Medicine and collaborators developed a mouse model of the disease that also exhibits autism-like social behaviors and used it to unravel the molecular mechanism…

Major Gift Focuses Efforts on a Rare, but Devastating, Genetic Eye Disease

Nixon Foundation funds effort to study and treat macular dystrophy at Shiley Eye Institute. Currently, there are no effective treatments to slow or prevent genetic condition.

MAGNET Study Sees Potential for MRE in Measuring Liver Fibrosis in Children

…to identify liver fibrosis in children. Nonalcoholic fatty liver disease (NAFLD) is now the most common cause of chronic liver disease in children, and scarring of the liver, known as fibrosis, is a major determinant of clinical outcomes.

Rare Genetic Mutations Linked To Bipolar Disorder

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, reports that abnormal sequences of DNA known as rare copy number variants, or CNVs, appear to play a significant role in the risk for early onset bipolar disorder.

Kids With MIS-C Mount Normal T Cell Response to COVID-19

UC San Diego study suggests multisystem inflammatory syndrome in children (MIS-C), a rare condition associated with COVID-19, is not caused by abnormal T cell response to COVID-19 virus as previously hypothesized.

New Test Spots Early Signs of Inherited Metabolic Disorders

A team of scientists, led by researchers at the University of California, San Diego School of Medicine and Zacharon Pharmaceuticals, have developed a simple, reliable test for identifying biomarkers for mucopolysaccharidoses (MPS), a group of inherited metabolic disorders that are currently diagnosed in patients only after symptoms have become serious…

Noted Canadian Neurologist to Head UC San Diego Alzheimer’s Disease Cooperative Study

…has been named the new director of the Alzheimer’s Disease Cooperative Study (ADCS) at University of California, San Diego, pending approval from the National Institute on Aging (NIA).

Broad Spectrum of Autism Depends on Spectrum of Genetic Factors

UC San Diego researchers report significant progress in understanding how the combined effects of rare mutations and common genetic variation in determining whether a child will develop ASD and its consequential effects.

Appendiceal Cancer Gets Its Own Preclinical Model

Researchers at UC San Diego School of Medicine and Moores Cancer Center at UC San Diego Health describe the first preclinical model of appendiceal cancer that contains all elements of the tumor, allowing previously stymied investigations to proceed.

Genomic Study Revealing Among Diverse Populations with Inherited Retinal Disease

An international team of researchers has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.